TAF1C RNA Polymerase I, TATA Box Binding Protein (TBP)-Associated Factor
A key component of the RNA polymerase I transcription initiation complex, essential for ribosomal RNA synthesis.
Gene Information Card
| Symbol | TAF1C |
|---|---|
| Full Name | TATA-Box Binding Protein Associated Factor, RNA Polymerase I Subunit C |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 9013 ncbi.nlm.nih.gov/gene/9013 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q15572 |
| OMIM ID | 604905 |
| HGNC ID | 11538 |
| Aliases | TAF1C, TAFI95, TAFI110, MGC:133155, SL1, TAFI, TAFI95, TAFI110 |
Description
TAF1C encodes a component of the RNA polymerase I (Pol I) transcription initiation complex, specifically the selectivity factor 1 (SL1) complex. This protein is essential for the transcription of ribosomal RNA (rRNA) genes, thereby playing a critical role in ribosome biogenesis and cellular growth. TAF1C interacts with the TATA-box binding protein (TBP) and other TAFs to facilitate promoter recognition and transcription initiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of TAF1C may enhance rRNA synthesis, promoting cell proliferation. | PMID: 25691885 |
| Colorectal cancer | Altered expression levels associated with tumor progression. | PMID: 29187737 |
| Neurodevelopmental disorders | Rare variants in TAF1C have been implicated in intellectual disability. | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Liver | 7.3 | Medium |
| Heart | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| K562 | 12.8 | Leukemia cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
| HepG2 | 14.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown functional impact; reported in neurodevelopmental cases |
| c.1567G>A (p.Gly523Arg) | Missense | <0.01% | Potential loss of function; associated with intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in TAF1C may impair SL1 complex assembly, reducing rRNA transcription and affecting cell growth.
Gain of Function (GOF)
Not well documented; overexpression in some cancers suggests possible oncogenic gain-of-function.
Dominant Negative (DN)
Not reported for TAF1C.
View complete mutation data：
Gene Ontology (GO)
| • RNA polymerase I transcription regulatory region sequence-specific DNA binding | • transcription initiation at RNA polymerase I promoter |
| • TBP-class protein binding | • nucleolus |
Pathways
• RNA polymerase I transcription
• rRNA processing
• Ribosome biogenesis
Protein Summary
TAF1C is a 95 kDa protein that localizes to the nucleolus and is a core component of the SL1 complex. It contains a conserved TAF domain and interacts with TBP and other TAFs to recruit RNA polymerase I to ribosomal DNA promoters. The protein is essential for rRNA transcription and ribosome production.
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